Compound Heterozygote (C282Y/H63D) of Hereditary Hemochromatosis in a 16-Year-Old Girl with Hypoplastic Kidney |
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Authors: | Barbara Kaczorowska-Hac Katarzyna Sikorska Krzysztof P. Bielawski Krystyna Schramm Anna Balcerska |
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Affiliation: | Department of Pediatry, Hematology, Oncology & Endocrinology, Medical University of Gdańsk, Gdańsk, Poland. sthac@amg.gda.pl |
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Abstract: | Iron-overload diseases are associated with primary or secondary disturbances of iron metabolism. Hereditary hemochromatosis, a genetically heterogeneous disease that is characterized by increased iron absorption and progressive deposition in parenchymal cells, may lead to organ damage and failure. Molecular studies have shown that hemochromatosis type 1 is predominantly due to a mutation in the HFE gene; there are 2 major mutations (C282Y and H63D). Disease symptoms are observed mostly after 40 years of age, often in men. We report the unusual case of a 16-year-old girl with an elevated serum iron level and a hypoplastic kidney. Identification of heterozygosity for the HFE gene mutation C282Y/H63D confirmed the diagnosis of hemochromatosis type 1. The early detection of hemochromatosis in the presented case may delay organ damage and failure due to iron overload. |
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Keywords: | Hemochromatosis Heterozygosity Iron |
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